ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.734del (p.Phe245fs)

dbSNP: rs1555684238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668859 SCV000793532 uncertain significance Junctional epidermolysis bullosa gravis of Herlitz 2017-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493102 SCV002793814 uncertain significance Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 2022-04-25 criteria provided, single submitter clinical testing

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